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  • 發布時間:2022-09-06 15:51 原文鏈接: 實體腫瘤檢測TMEM127基因介紹

    這個基因編碼一個跨膜蛋白和3個預測的跨膜結構域。該蛋白與早期內質體結構對應的泡狀細胞器亞群、高爾基體和溶酶體相關,并可能參與這些結構之間的蛋白質運輸。這個基因和其他幾個基因的突變導致嗜鉻細胞瘤。另外,編碼相同蛋白質的剪接轉錄變體已經被鑒定。

    This gene encodes a transmembrane protein with 3 predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate in protein trafficking between these structures. Mutations in this gene and several other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified.

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